FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ichthyosis follicularis-alopecia-photophobia syndrome 1 ID (Ontology) DOID:0111821 (Human Disease)
Definition A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
Also Known As "ichthyosis follicularis-atrichia-photophobia syndrome 1" ; "IFAP syndrome 1" ; "IFAP syndrome 1 with or without BRESHECK syndrome"
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 Genes
 ichthyosis follicularis-alopecia-photophobia syndrome 1       1
 for disease ribbon | ichthyosis follicularis-alopecia-photophobia syndrome 1       1
 model of | ichthyosis follicularis-alopecia-photophobia syndrome 1       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                ichthyosis follicularis-alopecia-photophobia syndrome 1  1 rec.
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "ichthyosis follicularis-atrichia-photophobia syndrome 1" EXACT
    "IFAP syndrome 1" EXACT
    "IFAP syndrome 1 with or without BRESHECK syndrome" EXACT
Secondary IDs
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GARD:2952
MESH:C536085
MIM:308205
ORDO:2273
UMLS_CUI:C1839988